Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Ethylmalonic_encephalopathy> ?p ?o }
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- Ethylmalonic_encephalopathy abstract "Ethylmalonic encephalopathy (EE) is a rare autosomal recessive inborn error of metabolism. Patients affected with EE are typically identified shortly after birth, with symptoms including diarrhea, petechiae and seizures. The genetic defect in EE is thought to involve an impairment in the degradation of sulfide intermediates in the body. Hydrogen sulfide then builds up to toxic levels. EE was initially described in 1994. Most cases of EE have been described in individuals of Mediterranean or Arabic origin.".
- Ethylmalonic_encephalopathy omim "602473".
- Ethylmalonic_encephalopathy thumbnail Autorecessive.svg?width=300.
- Ethylmalonic_encephalopathy wikiPageID "6531177".
- Ethylmalonic_encephalopathy wikiPageLength "6940".
- Ethylmalonic_encephalopathy wikiPageOutDegree "18".
- Ethylmalonic_encephalopathy wikiPageRevisionID "704461915".
- Ethylmalonic_encephalopathy wikiPageWikiLink Acrocyanosis.
- Ethylmalonic_encephalopathy wikiPageWikiLink Autosome.
- Ethylmalonic_encephalopathy wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Ethylmalonic_encephalopathy wikiPageWikiLink Category:Brain_disorders.
- Ethylmalonic_encephalopathy wikiPageWikiLink Diarrhea.
- Ethylmalonic_encephalopathy wikiPageWikiLink Dominance_(genetics).
- Ethylmalonic_encephalopathy wikiPageWikiLink ETHE1.
- Ethylmalonic_encephalopathy wikiPageWikiLink Epileptic_seizure.
- Ethylmalonic_encephalopathy wikiPageWikiLink File:Autorecessive.svg.
- Ethylmalonic_encephalopathy wikiPageWikiLink Hydrogen_sulfide.
- Ethylmalonic_encephalopathy wikiPageWikiLink Hypotonia.
- Ethylmalonic_encephalopathy wikiPageWikiLink Inborn_error_of_metabolism.
- Ethylmalonic_encephalopathy wikiPageWikiLink Mitochondrion.
- Ethylmalonic_encephalopathy wikiPageWikiLink Petechia.
- Ethylmalonic_encephalopathy wikiPageWikiLink Phenotype.
- Ethylmalonic_encephalopathy wikiPageWikiLink Thiosulfate.
- Ethylmalonic_encephalopathy wikiPageWikiLinkText "Ethylmalonic encephalopathy".
- Ethylmalonic_encephalopathy wikiPageWikiLinkText "ethylmalonic encephalopathy".
- Ethylmalonic_encephalopathy name "Ethylmalonic encephalopathy".
- Ethylmalonic_encephalopathy omim "602473".
- Ethylmalonic_encephalopathy wikiPageUsesTemplate Template:Amino_acid_metabolic_pathology.
- Ethylmalonic_encephalopathy wikiPageUsesTemplate Template:Infobox_disease.
- Ethylmalonic_encephalopathy wikiPageUsesTemplate Template:NLM.
- Ethylmalonic_encephalopathy wikiPageUsesTemplate Template:Reflist.
- Ethylmalonic_encephalopathy subject Category:Autosomal_recessive_disorders.
- Ethylmalonic_encephalopathy subject Category:Brain_disorders.
- Ethylmalonic_encephalopathy hypernym Error.
- Ethylmalonic_encephalopathy type Disease.
- Ethylmalonic_encephalopathy type Disorder.
- Ethylmalonic_encephalopathy type Thing.
- Ethylmalonic_encephalopathy type Q12136.
- Ethylmalonic_encephalopathy comment "Ethylmalonic encephalopathy (EE) is a rare autosomal recessive inborn error of metabolism. Patients affected with EE are typically identified shortly after birth, with symptoms including diarrhea, petechiae and seizures. The genetic defect in EE is thought to involve an impairment in the degradation of sulfide intermediates in the body. Hydrogen sulfide then builds up to toxic levels. EE was initially described in 1994.".
- Ethylmalonic_encephalopathy label "Ethylmalonic encephalopathy".
- Ethylmalonic_encephalopathy sameAs Q17119115.
- Ethylmalonic_encephalopathy sameAs m.0g943j.
- Ethylmalonic_encephalopathy sameAs Q17119115.
- Ethylmalonic_encephalopathy wasDerivedFrom Ethylmalonic_encephalopathy?oldid=704461915.
- Ethylmalonic_encephalopathy depiction Autorecessive.svg.
- Ethylmalonic_encephalopathy isPrimaryTopicOf Ethylmalonic_encephalopathy.
- Ethylmalonic_encephalopathy name "Ethylmalonic encephalopathy".
